ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.871G>T (p.Glu291Ter) (rs1232880706)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Medical Genetics Ghent,University of Ghent RCV000551372 SCV000787428 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing
Undiagnosed Diseases Network,NIH RCV000551372 SCV000622152 pathogenic Marfan syndrome 2016-05-30 criteria provided, single submitter clinical testing Pathogenic variant based on genotype/phenotype relationship.

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